List of variants reported as pathogenic for ALG11-congenital disorder of glycosylation

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)	rs387907181	0.00001
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)	rs1064795802	0.00001
NC_000013.10:g.(?_52585403)_(52602726_?)del
NC_000013.10:g.(?_52586533)_(52607737_?)del
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)	rs387907182
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)	rs387907183
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)	rs1064795803
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)	rs794727256
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)	rs267606652
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)	rs748982784
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)	rs387907180
NM_001004127.3(ALG11):c.887del (p.Lys296fs)
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)	rs387907184

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